hwcheng at PUB.ONLINE.JN.SD.CN
Sat Feb 7 20:29:34 EST 1998
A Homozygous boy of Familial Hypercholesterolemia Needs Help
The proband is now a 7-year-old boy. Xanthoma was found in the buttock when the boy was born. Then more xanthomas were found in both elbows, cervicale posterior, inner canthus, joints of fingers and toeses.There is also arcus corneae.The lipids investigation: total cholesterol 19.2 mmol/L, triglyceride 1.2 mmol/L, HDL-C 0.8 mmol/L, LDL-C 17.6 mmol/L.Auscultatory and ultrasonic examination found stenosis in the root of aorta. All the medicine which we could find,failed to reduce his cholesterol in blood. Some days ago, he was sent many times to hospital with severe angina pectoris.
I have finished the lineage analysis, which shows the character of autosome dominance inheritance. I have had the proband's fibroblast and lymphocyte cultured and the LDL-R analysis is going to be done soon in my lab. I also have the DNA samples of the boy and his parents.I wish I could find the gene mutation and do the gene therapy for the boy to save his life.
I have not got the any grant for gene sequencing up to now, so it is impossible for me to find the gene mutation soon. I wish the boy would accept the gene therapy after the DNA sequency. What I can do now is only for help with internet.
Hu Weicheng, MD
Department of Pathphysiology
Shandong Medical University
Jinan, Shandong, 250012
E-mail hwcheng at pub.online.jn.sd.cn
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